Susana Alves Seixas
AuthID: R-000-GTS
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TITLE: Alpha-1 Antitrypsin Deficiency Laboratory Testing-External Quality Assessment Program AATD LABNet 2019-2021
AUTHORS: Chorostowska Wynimko, J.; Belmonte, I.; Balduyck, M.; Carroll, T. P.; Greulich, T.; Mcelvaney, N. G.; Miravitlles, M.; Rodriguez Frias, F.; Odou, M.; Ottaviani, S.; Rozy, A.; Seixas, S.; Orriols Torras, G.; Veith, M.; Zerimech, F.; Corsico, A. G.; Ferrarotti, I.;
PUBLISHED: 2022, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 60
AUTHORS: Chorostowska Wynimko, J.; Belmonte, I.; Balduyck, M.; Carroll, T. P.; Greulich, T.; Mcelvaney, N. G.; Miravitlles, M.; Rodriguez Frias, F.; Odou, M.; Ottaviani, S.; Rozy, A.; Seixas, S.; Orriols Torras, G.; Veith, M.; Zerimech, F.; Corsico, A. G.; Ferrarotti, I.;
PUBLISHED: 2022, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 60
12
TITLE: The effect of COVID-19 pandemics on the comprehensive laboratory diagnostic of alpha-1 antitrypsin deficiency in Europe - report from the AATD LABNet
AUTHORS: Chorostowska Wynimko, J.; Balduyck, M.; Carroll, T. P.; Greulich, T.; Mcelvaney, N. G.; Miravitlles, M.; Rodriguez Frias, F.; Odou, M.; Ottaviani, S.; Parr, D.; Rozy, A.; Seixas, S.; Orriols Torras, G.; Veith, M.; Zerimech, F.; Corsico, A. G.; Ferrarotti, I. Ilaria;
PUBLISHED: 2022, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 60
AUTHORS: Chorostowska Wynimko, J.; Balduyck, M.; Carroll, T. P.; Greulich, T.; Mcelvaney, N. G.; Miravitlles, M.; Rodriguez Frias, F.; Odou, M.; Ottaviani, S.; Parr, D.; Rozy, A.; Seixas, S.; Orriols Torras, G.; Veith, M.; Zerimech, F.; Corsico, A. G.; Ferrarotti, I. Ilaria;
PUBLISHED: 2022, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 60
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TITLE: Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment
AUTHORS: Cervan Martin, M; Bossini Castillo, L; Rivera Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Guzman Jimenez, A; Costa, C; Llinares Burguet, I; Khantham, C; Burgos, M; Barrionuevo, FJ; Jimenez, R; Sanchez Curbelo, J; Lopez Rodrigo, O; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 11, ISSUE: 1
AUTHORS: Cervan Martin, M; Bossini Castillo, L; Rivera Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Guzman Jimenez, A; Costa, C; Llinares Burguet, I; Khantham, C; Burgos, M; Barrionuevo, FJ; Jimenez, R; Sanchez Curbelo, J; Lopez Rodrigo, O; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 11, ISSUE: 1
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TITLE: Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review
AUTHORS: Corso, G; Corso, F; Bellerba, F; Carneiro, P; Seixas, S; Cioffi, A; La Vecchia, C; Magnoni, F; Bonanni, B; Veronesi, P; Gandini, S; Figueiredo, J;
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 6
AUTHORS: Corso, G; Corso, F; Bellerba, F; Carneiro, P; Seixas, S; Cioffi, A; La Vecchia, C; Magnoni, F; Bonanni, B; Veronesi, P; Gandini, S; Figueiredo, J;
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 6
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TITLE: Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
AUTHORS: Seixas, S; Marques, PI;
PUBLISHED: 2021, SOURCE: APPLICATION OF CLINICAL GENETICS, VOLUME: 14
AUTHORS: Seixas, S; Marques, PI;
PUBLISHED: 2021, SOURCE: APPLICATION OF CLINICAL GENETICS, VOLUME: 14
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TITLE: Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort Full Text
AUTHORS: Cervan Martin, M; Bossini Castillo, L; Rivera Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MD; Clavero, A; Vicente, FJ; Guzman Jimenez, A; Burgos, M; Barrionuevo, FJ; Jimenez, R; Sanchez Curbelo, J; Lopez Rodrigo, O; Peraza, MF; Pereira Caetano, I; Marques, PI; ...More
PUBLISHED: 2021, SOURCE: ANDROLOGY, VOLUME: 9, ISSUE: 4
AUTHORS: Cervan Martin, M; Bossini Castillo, L; Rivera Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MD; Clavero, A; Vicente, FJ; Guzman Jimenez, A; Burgos, M; Barrionuevo, FJ; Jimenez, R; Sanchez Curbelo, J; Lopez Rodrigo, O; Peraza, MF; Pereira Caetano, I; Marques, PI; ...More
PUBLISHED: 2021, SOURCE: ANDROLOGY, VOLUME: 9, ISSUE: 4
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TITLE: Comparative analysis of the bronchoalveolar microbiome in Portuguese patients with different chronic lung disorders Full Text
AUTHORS: Seixas, S; Kolbe, AR; Gomes, S; Sucena, M; Sousa, C; Rodrigues, LV; Teixeira, G; Pinto, P; de Abreu, TT; Barbara, C; Semedo, J; Mota, L; Carvalho, AS; Matthiesen, R; Marques, PI; Perez Losada, M;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
AUTHORS: Seixas, S; Kolbe, AR; Gomes, S; Sucena, M; Sousa, C; Rodrigues, LV; Teixeira, G; Pinto, P; de Abreu, TT; Barbara, C; Semedo, J; Mota, L; Carvalho, AS; Matthiesen, R; Marques, PI; Perez Losada, M;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
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TITLE: The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing Full Text
AUTHORS: Barbosa Matos, R; Silva, RL; Garrido, L; Aguiar, AC; Garcia Pelaez, J; Andre, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I ; Devezas, V; Oliveira, R ; Fernandes, S; Costa, SC; Magalhaes, A; Baptista, M; Carneiro, F ; Pinheiro, H; Castedo, S ; ...More
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 17
AUTHORS: Barbosa Matos, R; Silva, RL; Garrido, L; Aguiar, AC; Garcia Pelaez, J; Andre, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I ; Devezas, V; Oliveira, R ; Fernandes, S; Costa, SC; Magalhaes, A; Baptista, M; Carneiro, F ; Pinheiro, H; Castedo, S ; ...More
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 17
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TITLE: External quality assessment (EQA) for laboratory diagnosis of alpha1-antitrypsin deficiency (AATD) - Program driven by the European Alpha-1-Research Collaboration (EARCO) network
AUTHORS: Ferrarotti, I; Belmonte, I; Balduyck, M; Carroll, TP; Corsico, AG; Greulich, T; Mcelvaney, NG; Miravitlles, M; Odou, F; Ottaviani, S; Rodriguez Frias, F; Rozy, A; Seixas, S; Veith, M; Zerimech, F; Chorostowska Wynimko, J;
PUBLISHED: 2021, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 58
AUTHORS: Ferrarotti, I; Belmonte, I; Balduyck, M; Carroll, TP; Corsico, AG; Greulich, T; Mcelvaney, NG; Miravitlles, M; Odou, F; Ottaviani, S; Rodriguez Frias, F; Rozy, A; Seixas, S; Veith, M; Zerimech, F; Chorostowska Wynimko, J;
PUBLISHED: 2021, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 58
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TITLE: Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure Full Text
AUTHORS: Jimmaline J Hardy; Margot J Wyrwoll; William Mcfadden; Agnieszka Malcher; Nadja Rotte; Nijole C Pollock; Sarah Munyoki; Maria V Veroli; Brendan J Houston; Miguel J Xavier; Laura Kasak; Margus Punab; Maris Laan; Sabine Kliesch; Peter Schlegel; Thomas Jaffe; Kathleen Hwang; Josip Vukina; Miguel A Brieño-Enríquez; Kyle Orwig; ...More
PUBLISHED: 2021, SOURCE: Human Genetics, VOLUME: 140, ISSUE: 8
AUTHORS: Jimmaline J Hardy; Margot J Wyrwoll; William Mcfadden; Agnieszka Malcher; Nadja Rotte; Nijole C Pollock; Sarah Munyoki; Maria V Veroli; Brendan J Houston; Miguel J Xavier; Laura Kasak; Margus Punab; Maris Laan; Sabine Kliesch; Peter Schlegel; Thomas Jaffe; Kathleen Hwang; Josip Vukina; Miguel A Brieño-Enríquez; Kyle Orwig; ...More
PUBLISHED: 2021, SOURCE: Human Genetics, VOLUME: 140, ISSUE: 8
